Canonical Allele Identifier: CA915952485

Gene: DSG2

Linked Data

• ClinVar Variation Id: 817197
• ClinVar RCV Id: RCV001008309
• dbSNP Id: rs1598811348

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522177_31522184del , CM000680.2:g.31522177_31522184del	GRCh38
NC_000018.9:g.29102140_29102147del , CM000680.1:g.29102140_29102147del	GRCh37
NC_000018.8:g.27356138_27356145del	NCBI36
NG_007072.3:g.28936_28943del , LRG_397:g.28936_28943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.449_456del
ENST00000682241.2:c.618_625del	ENSP00000507600.2:p.Tyr207SerfsTer6
ENST00000683614.2:n.449_456del
ENST00000682087.1:c.449_456del
ENST00000682241.1:c.449_456del
ENST00000683614.1:c.449_456del
ENST00000683654.1:c.618_625del	ENSP00000506971.1:p.Tyr207SerfsTer6
ENST00000684461.1:n.1288_1295del
ENST00000261590.13:c.618_625del MANE Select	ENSP00000261590.8:p.Tyr207SerfsTer6
ENST00000261590.12:c.618_625del	ENSP00000261590.8:p.Tyr207SerfsTer6
ENST00000585206.1:c.618_625del	ENSP00000462503.1:p.Tyr207SerfsTer6
NM_001943.3:c.618_625del , LRG_397t1:c.618_625del	NP_001934.2:p.Tyr207SerfsTer6
NM_001943.4:c.618_625del	NP_001934.2:p.Tyr207SerfsTer6
XM_024451095.1:c.84_91del	XP_024306863.1:p.Tyr29SerfsTer6
NM_001943.5:c.618_625del MANE Select	NP_001934.2:p.Tyr207SerfsTer6